Iowa EHDI News, Spring 2011

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.

Iowa EHDI News, Fall 2009

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.

Iowa EHDI News, Fall 2010

The purpose of the newsletter is to communicate with parents and professionals about newborn hearing screening in Iowa. We will share information about: Hearing screenings Intervention Resources available for parents and professionals “Best practices” by hospitals, AEAs (Area Education Agencies), or private practive audiology offices System goals Family stories Highlights from the EHDI Advisory Committee Updates on Iowa’s EHDI program It is important to point out that we are a diverse team of individuals working together to ensure that all newborns and toddlers with hearing loss are identified as early as possible and provided with timely and appropriate audiological, educational and medical intervention. Each newsletter will introduce you to various team members of the EHDI system in Iowa.

Early Detection of Alzheimer's Disease Beta-amyloid Pathology -Applicability of Positron Emission Tomography with the Amyloid Radioligand 11C-PIB

Early Detection of Alzheimer's Disease Beta-amyloid Pathology -Applicability of Positron Emission Tomography with the Amyloid Radioligand ¹¹C-PIB Accumulation of beta amyloid (Abeta) in the brain is characteristic for Alzheimer’s disease (AD). Carbon-11 labeled 2-(4’-methylaminophenyl)-6-hydroxybenzothiazole (¹¹C-PIB) is a novel positron emission tomography (PET) amyloid imaging agent that appears to be applicable for in vivo Abeta plaque detection and quantitation. The biodistribution and radiation dosimetry of ¹¹C-PIB were investigated in 16 healthy subjects. The reproducibility of a simplified ¹¹C-PIB quantitation method was evaluated with a test-retest study on 6 AD patients and 4 healthy control subjects. Brain ¹¹C-PIB uptake and its possible association with brain atrophy rates were studied over a two-year follow-up in 14 AD patients and 13 healthy controls. Nine monozygotic and 8 dizygotic twin pairs discordant for cognitive impairment and 9 unrelated controls were examined to determine whether brain Abeta accumulation could be detected with ¹¹C-PIB PET in cognitively intact persons who are at increased genetic risk for AD. The highest absorbed radiation dose was received by the gallbladder wall (41.5 mjuGy/MBq). About 20 % of the injected radioactivity was excreted into urine, and the effective whole-body radiation dose was 4.7 mjuSv/MBq. Such a dose allows repeated scans of individual subjects. The reproducibility of the simplified ¹¹C-PIB quantitation was good or excellent both at the regional level (VAR 0.9-5.5 %) and at the voxel level (VAR 4.2-6.4 %). ¹¹C-PIB uptake did not increase during 24 months’ follow-up of subjects with mild or moderate AD, even though brain atrophy and cognitive decline progressed. Baseline neocortical ¹¹C-PIB uptake predicted subsequent volumetric brain changes in healthy control subjects (r = 0.725, p = 0.005). Cognitively intact monozygotic co-twins – but not dizygotic co-twins – of memory-impaired subjects exhibited increased ¹¹C-PIB uptake (117-121 % of control mean) in their temporal and parietal cortices and the posterior cingulate (p<0.05), when compared with unrelated controls. This increased uptake may be representative of an early AD process, and genetic factors seem to play an important role in the development of AD-like Abeta plaque pathology. ¹¹C-PIB PET may be a useful method for patient selection and follow-up for early-phase intervention trials of novel therapeutic agents. AD might be detectable in high-risk individuals in its presymptomatic stage with ¹¹C-PIB PET, which would have important consequences both for future diagnostics and for research on disease-modifying treatments.

Quantitative Analysis of Novel Prostate Cancer Markers in Tissue

Prostate cancer is a heterogeneous disease affecting an increasing number of men all over the world, but particularly in the countries with the Western lifestyle. The best biomarker assay currently available for the diagnosis of the disease, the measurement of prostate specific antigen (PSA) levels from blood, lacks specificity, and even when combined with invasive tests such as digital rectal exam and prostate tissue biopsies, these methods can both miss cancers, and lead to overdiagnosis and subsequent overtreatment of cancers. Moreover, they cannot provide an accurate prognosis for the disease. Due to the high prevalence of indolent prostate cancers, the majority of men affected by prostate cancer would be able to live without any medical intervention. Their latent prostate tumors would not cause any clinical symptoms during their lifetime, but few are willing to take the risk, as currently there are no methods or biomarkers to reliably differentiate the indolent cancers from the aggressive, lethal cases that really are in need of immediate medical treatment. This doctoral work concentrated on validating 12 novel candidate genes for use as biomarkers for prostate cancer by measuring their mRNA expression levels in prostate tissue and peripheral blood of men with cancer as well as unaffected individuals. The panel of genes included the most prominent markers in the current literature: PCA3 and the fusion gene TMPRSS2-ERG, in addition to BMP-6, FGF-8b, MSMB, PSCA, SPINK1, and TRPM8; and the kallikrein-related peptidase genes 2, 3, 4, and 15. Truly quantitative reverse-transcription PCR assays were developed for each of the genes for the purpose, time-resolved fluorometry was applied in the real-time detection of the amplification products, and the gene expression data were normalized by using artificial internal RNA standards. Cancer-related, statistically significant differences in gene transcript levels were found for TMPRSS2-ERG, PCA3, and in a more modest scale, for KLK15, PSCA, and SPINK1. PCA3 RNA was found in the blood of men with metastatic prostate cancer, but not in localized cases of cancer, suggesting limitations for using this method for early cancer detection in blood. TMPRSS2-ERG mRNA transcripts were found more frequently in cancerous than in benign prostate tissues, but they were present also in 51% of the histologically benign prostate tissues of men with prostate cancer, while being absent in specimens from men without any signs of prostate cancer. PCA3 was shown to be 5.8 times overexpressed in cancerous tissue, but similarly to the fusion gene mRNA, its levels were upregulated also in the histologically benign regions of the tissue if the corresponding prostate was harboring carcinoma. These results indicate a possibility to utilize these molecular assays to assist in prostate cancer risk evaluation especially in men with initially histologically negative biopsies.

Learning to be literate : parental empowerment in early literacy interventions

Considerable research has focused on the success of early intervention programs for children. However, minimal research has focused on the effect these programs have on the parents of targeted children. Many current early intervention programs champion family-focused and inclusive programming, but few have evaluated parent participation in early interventions and fewer still have evaluated the impact of these programs on beliefs and attitudes and parenting practices. Since parents will continue to play a key role in their child's developmental course long after early intervention programs end, it is vital to examine whether these programs empower parents to take action to make changes in the lives of their children. The goal of this study was to understand parental influences on the early development of literacy, and in particular how parental attitudes, beliefs and self efficacy impact parent and child engagement in early literacy intervention activities. A mixed method procedure using quantitative and qualitative strategies was employed. A quasi-experimental research design was used. The research sample, sixty parents who were part of naturally occurring community interventions in at- risk neighbourhoods in a south-western Ontario city participated in the quantitative phase. Largely individuals whose home language was other than English, these participants were divided amongst three early literacy intervention groups, a Prescriptive Interventionist type group, a Participatory Empowering type group and a drop-in parent- child neighbourhood Control group. Measures completed pre and post a six session literacy intervention, on all three literacy and evidence of change in parental empowerment. Parents in all three groups, on average, held beliefs about early literacy that were positive and that were compatible with current approaches to language development and emergent literacy. No significant change in early literacy beliefs and attitudes for pre to post intervention was found. Similarly, there was no significant difference between groups on empowerment scores, but there was a significant change post intervention in one group's empowerment score. There was a drop in the empowerment score for the Prescriptive Interventionist type group, suggesting a drop in empowerment level. The qualitative aspect of this study involved six in-depth interviews completed with a sub-set of the sixty research participants. Four similar themes emerged across the groups: learning takes place across time and place; participation is key; success is achieved by taking small steps; and learning occurs in multiple ways. The research findings have important implications for practitioners and policy makers who target at risk populations with early intervention programming and wish to sustain parental empowerment. Study results show the value parents place on early learning and point to the importance of including parents in the development and delivery of early intervention programs. groups, were analyzed for evidence of change in parental attitudes and beliefs about early literacy and evidence of change in parental empowerment. Parents in all three groups, on average, held beliefs about early literacy that were positive and that were compatible with current approaches to language development and emergent literacy. No significant change in early literacy beliefs and attitudes for pre to post intervention was found. Similarly, there was no significant difference between groups on empowerment scores, but there was a significant change post intervention in one group's empowerment score. There was a drop in the empowerment score for the Prescriptive Interventionist type group, suggesting a drop in empowerment level. The qualitative aspect of this study involved six in-depth interviews completed with a sub-set of the sixty research participants. Four similar themes emerged across the groups: learning takes place across time and place; participation is key; success is achieved by taking small steps; and learning occurs in multiple ways. The research findings have important implications for practitioners and policy makers who target at risk populations with early intervention programming and wish to sustain parental empowerment. Study results show the value parents place on early learning and point to the importance of including parents in the development and delivery of early intervention programs.

Le délai entre le traumatisme médullaire et la chirurgie a-t-il un impact sur la survenue de complications durant la phase aigüe d’hospitalisation

Le délai optimal entre une lésion médullaire traumatique (LMT) et la chirurgie demeure indéterminé. Cependant, la relation entre la prévention de complications et le délai chirurgical n’a jamais été spécifiquement étudiée. L’objectif principal de ce travail était de détecter si les taux de complications chez des LMT étaient associés avec le délai chirurgical. L’objectif secondaire était d’identifier si le délai chirurgical est un prédicteur indépendant de la survenue de complications. Un premier article présente l’analyse d’une cohorte rétrospective de 431 LMTs. Une chirurgie réalisée dans un délai inférieur à 24h (ou inférieur à 72h si un délai de 24h ne peut être respecté) prédisait une diminution du taux de l’ensemble des complications, du taux de pneumonies et du taux de plaies de pression. Les autres facteurs prédictifs de complications identifiés étaient : l’âge, la sévérité de l’atteinte neurologique de la lésion selon l’échelle ASIA, un traumatisme cervical plutôt que thoracique, la présence de comorbidités, la sévérité du traumatisme selon l’échelle ISS et la complexité de la chirurgie. Les connaissances actuelles suggèrent qu’une opération chirurgicale rapide n’a que peu d’effet sur la récupération neurologique chez les LMTs complètes (interruption complète des fonctions sensorimotrices). Pour cette raison, notre second article analyse l’impact du délai chirurgical sur la survenue des complications à partir d’une sous-population de 197 LMTs complètes de notre cohorte. Un délai chirurgical supérieur à 24h prédisait une augmentation des complications, notamment les pneumonies et les infections urinaires. Bien que des études prospectives randomisées sont nécessaires pour confirmer nos conclusions, nos études supportent un délai chirurgical rapide afin de diminuer le taux de complications non neurologiques chez les LMTs.

Acceptability of home-assessment post medical abortion and medical abortion in a low-resource setting in Rajasthan, India : Secondary outcome analysis of a non-inferiority randomized controlled trial

Background: Studies evaluating acceptability of simplified follow-up after medical abortion have focused on high-resource or urban settings where telephones, road connections, and modes of transport are available and where women have formal education. Objective: To investigate women's acceptability of home-assessment of abortion and whether acceptability of medical abortion differs by in-clinic or home-assessment of abortion outcome in a low-resource setting in India. Design: Secondary outcome of a randomised, controlled, non-inferiority trial. Setting Outpatient primary health care clinics in rural and urban Rajasthan, India. Population: Women were eligible if they sought abortion with a gestation up to 9 weeks, lived within defined study area and agreed to follow-up. Women were ineligible if they had known contraindications to medical abortion, haemoglobin < 85mg/l and were below 18 years. Methods: Abortion outcome assessment through routine clinic follow-up by a doctor was compared with home-assessment using a low-sensitivity pregnancy test and a pictorial instruction sheet. A computerized random number generator generated the randomisation sequence (1: 1) in blocks of six. Research assistants randomly allocated eligible women who opted for medical abortion (mifepristone and misoprostol), using opaque sealed envelopes. Blinding during outcome assessment was not possible. Main outcome measures: Women's acceptability of home-assessment was measured as future preference of follow-up. Overall satisfaction, expectations, and comparison with previous abortion experiences were compared between study groups. Results: 731 women were randomized to the clinic follow-up group (n = 353) or home-assessment group (n = 378). 623 (85%) women were successfully followed up, of those 597 (96%) were satisfied and 592 (95%) found the abortion better or as expected, with no difference between study groups. The majority, 355 (57%) women, preferred home-assessment in the event of a future abortion. Significantly more women, 284 (82%), in the home-assessment group preferred home-assessment in the future, as compared with 188 (70%) of women in the clinic follow-up group, who preferred clinic follow-up in the future (p < 0.001). Conclusion: Home-assessment is highly acceptable among women in low-resource, and rural, settings. The choice to follow-up an early medical abortion according to women's preference should be offered to foster women's reproductive autonomy.

Abordagem teórica e prática sobre a reabilitação de pacientes portadores de acidente vascular encefálico, e desenvolvimento de um equipamento/protótipo: uma possibilidade inovadora de tratamento

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Genetic of catecholaminergic polymorphic ventricular tachycardia: basic concepts.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy characterized by altered intracellular calcium handling resulting in ventricular arrhythmias and high risk of cardiac sudden death in young cases with normal structural hearts. Patients present with exertional syncope and the trademark dysrhythmia is polymorphic and/or bidirectional ventricular tachycardia during exercise or adrenergic stimulation. Early detection of CPVT is crucial because opportune medical intervention prevents sudden cardiac death. Mutations in the ryanodine receptor RYR2 explain nearly 70% of the CPVT cases and cause the autosomic dominant form of the disease. Mutations in calsequestrin 2 causes a recessive form and explain less than 5% of all cases. Genetic screening in CPVT, besides providing early detection of asymptomatic carriers at risk, has provided important insights in the mechanism underlying the disease. Mutational analysis of RYR2 has been a challenge due to the large size of the gene, 105 exons encoded for 4,967 amino-acids. In this review we analyze general concepts of the disease, differential diagnosis and strategies for genetic screening.

Community-Based Study of the Association of High Myopia in Children with Ocular and Systemic Disease

Purpose. High myopia in childhood is associated with important ocular and systemic conditions. However in the UK, high myopia in early childhood is not specifically identified in current ophthalmology, optometry, or orthoptic protocols for screening, referral, or investigation. An ongoing study in the West Midlands, UK, is investigating high myopia presenting to community health care clinics with the aim of compiling guidelines for assessment and subsequent referral. Methods. Children with high myopia were identified from community optometric and orthoptic sources and invited for an ophthalmology and optometry examination to ascertain possible ocular or systemic disease. Results. High myopia with no associated ocular or systemic condition was present in 15 (56%) of the children. In seven children (25%), associated ocular problems were found including unrecognized retinal dystrophies and amblyopia. Systemic disorders associated with high myopia were found in five children (19%) and included Sticklers syndrome, Weill-Marchesani syndrome, and homocystinuria. In one child, the diagnosis made before this study was found to be incorrect, and in another child, the results were inconclusive. In two cases, the diagnosis of a systemic condition in the child led to the identification of the disease in at least one relative. Conclusions. There is a high prevalence of ocular and systemic abnormality in young children seen in the community. Optometric and ophthalmologic assessment of children less than 10 years with myopia ≥5 D is likely to identify significant ocular or systemic disease, a proportion of which will respond to medical intervention. Detection and prompt referral of these cases by community health care services may be expected to prolong vision and possibly life expectancy.

Does mode of follow-up influence contraceptive use after medical abortion in a low-resource setting? Secondary outcome analysis of a non-inferiority randomized controlled trial

BACKGROUND: Post-abortion contraceptive use in India is low and the use of modern methods of contraception is rare, especially in rural areas. This study primarily compares contraceptive use among women whose abortion outcome was assessed in-clinic with women who assessed their abortion outcome at home, in a low-resource, primary health care setting. Moreover, it investigates how background characteristics and abortion service provision influences contraceptive use post-abortion. METHODS: A randomized controlled, non-inferiority, trial (RCT) compared clinic follow-up with home-assessment of abortion outcome at 2 weeks post-abortion. Additionally, contraceptive-use at 3 months post-abortion was investigated through a cross-sectional follow-up interview with a largely urban sub-sample of women from the RCT. Women seeking abortion with a gestational age of up to 9 weeks and who agreed to a 2-week follow-up were included (n = 731). Women with known contraindications to medical abortions, Hb < 85 mg/l and aged below 18 were excluded. Data were collected between April 2013 and August 2014 in six primary health-care clinics in Rajasthan. A computerised random number generator created the randomisation sequence (1:1) in blocks of six. Contraceptive use was measured at 2 weeks among women successfully followed-up (n = 623) and 3 months in the sub-set of women who were included if they were recruited at one of the urban study sites, owned a phone and agreed to a 3-month follow-up (n = 114). RESULTS: There were no differences between contraceptive use and continuation between study groups at 3 months (76 % clinic follow-up, 77 % home-assessment), however women in the clinic follow-up group were most likely to adopt a contraceptive method at 2 weeks (62 ± 12 %), while women in the home-assessment group were most likely to adopt a method after next menstruation (60 ± 13 %). Fifty-two per cent of women who initiated a method at 2 weeks chose the 3-month injection or the copper intrauterine device. Only 4 % of women preferred sterilization. Caste, educational attainment, or type of residence did not influence contraceptive use. CONCLUSIONS: Simplified follow-up after early medical abortion will not change women's opportunities to access contraception in a low-resource setting, if contraceptive services are provided as intra-abortion services as early as on day one. Women's postabortion contraceptive use at 3 months is unlikely to be affected by mode of followup after medical abortion, also in a low-resource setting. Clinical guidelines need to encourage intra-abortion contraception, offering the full spectrum of evidence-based methods, especially long-acting reversible methods. TRIAL REGISTRATION: Clinicaltrials.gov NCT01827995.

“Who wants to go repeatedly to the hospital?” : Perceptions and experiences of simplified medical abortion in Rajasthan, India

The aim of this study is to explore women's experiences and perceptions of home use of misoprostol and of the self-assessment of the outcome of early medical abortion in a low-resource setting in India. In-depth interviews were conducted with 20 women seeking early medical abortion, who administered misoprostol at home and assessed their own outcome of abortion using a low-sensitivity pregnancy test. With home use of misoprostol, women were able to avoid inconvenience of travel, child care, and housework, and maintain confidentiality. The use of a low-sensitivity pregnancy test alleviated women's anxieties about retained products. Majority said they would prefer medical abortion involving a single visit in future. This study provides nuanced understanding of how women manage a simplified medical abortion in the context of low literacy and limited communication facilities. Service delivery guidelines should be revised to allow women to have medical abortion with fewer visits.

Significado da intervenção médica e da fé religiosa para o paciente idoso com câncer

Neste estudo, procurou-se identificar o significado da intervenção médica e da fé religiosa para o paciente idoso com câncer. Pesquisa qualitativa e descritiva foi desenvolvida no período de 9/01 a 28/03/2001 no Hospital do Servidor Público Estadual - Francisco Morato de Oliveira/ IAMSPE. A amostra foi não aleatória, constituída de vinte idosos com câncer. A coleta de dados ocorreu mediante a técnica da entrevista semi-estruturada. Para a tabulação e análise dos dados, utilizou-se o método do Discurso do Sujeito Coletivo, com aplicação de três figuras metodológicas: a Idéia Central, as Expressões-chave e o Discurso do Sujeito Coletivo (DSC). As principais idéias centrais presentes nos discursos foram: 1. Nada a reclamar. Eu acho muito bom e penso que eles estão no caminho certo; 2. Não. Por enquanto estou acompanhando tudo o que os médicos falam; 3. Eu já participei, mas atualmente não; 4. Eu não participo de atividade religiosa; 5. Fortalecimento, esperança e equilíbrio. A fé religiosa é tudo!; 6. Continua a mesma, porém, mudou a maneira de ser. O DSC mostra que o procedimento médico adotado forneceu maior esperança ao paciente, elegendo a fé religiosa como instrumento-chave para o enfrentamento da doença

Physiotherapy after breast cancer surgery: results of a randomised controlled study to minimise lymphoedema

The development of secondary arm lymphoedema after the removal of axillary lymph nodes remains a potential problem for women with breast cancer. This study investigated the incidence of arm lymphoedema following axillary dissection to determine the effect of prospective monitoring and early physiotherapy intervention. Sixty-five women were randomly assigned to either the treatment (TG) or control group (CG) and assessments were made preoperatively, at day 5 and at 1, 3, 6, 12 and 24 months postoperatively. Three measurements were used for the detection of arm lymphoedema: arm circumferences (CIRC), arm volume (VOL) and multi-frequency bioimpedance (MFBIA). Clinically significant lymphoedema was confirmed by an increase of at least 200 ml from the preoperative difference between the two arms. Using this definition, the incidence of lymphoedema at 24 mo. was 21%, with a rate of 11% in the TG compared to 30% in the CG. The CIRC or MFBIA methods failed to detect lymphoedema in up to 50% of women who demonstrated an increase of at least 200 ml in the VOL of the operated arm compared to the unoperated arm. The physiotherapy intervention programme for the TG women included principles for lymphoedema risk minimisation and early management of this condition when it was identified. These strategies appear to reduce the development of secondary lymphoedema and alter its progression in comparison to the CG women. Monitoring of these women is continuing and will determine if these benefits are maintained over a longer period for women with early lymphoedema after breast cancer surgery.